Two brothers; one uses the stairs, the other a ramp. Both have Duchenne muscular dystrophy. The disease affects mostly boys, usually killing them before their 21st birthday. However, 12-year-old Max is getting what some are calling a miracle drug. But, his 15-year-old brother Austin is not allowed to take the drug.

What Austin can’t get is a drug called Eteplirsen. He wasn’t eligible for the drug trial because he was already in a wheel chair, which is where all Duchenne muscular dystrophy patients end up. He has been in the chair since he was 10 ½.

His brother Max was headed to the chair, too, as he was already using a walker, a cane, and occasionally a wheel chair. But, he could walk six minutes on his own, and that was the deal breaker that got him into the drug trial three years ago. He now gets weekly infusions of the drug.

“We saw his disease progression halted,” McNary said.

Halted, and even reversed. Max was walking better, running faster and getting stronger as his weaker brother watched from his wheelchair.

“It is hard because it is there and I can use it but I’m not able to, and Max is on it and he’s getting better,” Austin said.

“Some boys are running, some boys are playing sports,” said Christine McSherry, CEO of Jett Foundation, co-founder of International Duchenne Alliance in Kingston, Mass.

McSherry said never before in the history of this devastating disease has a drug performed so well, ending the inevitable.

“Once those boys decline, they continue to decline, and they go into a power chair,” McSherry explained. “Then their respiratory starts to decline.”

She knows her own 18-year-old son Jett is at that point. Walking may be out, but boys in the trial are showing improved pulmonary function. She is certain getting Jett the drug now would save him.

“There is either this for Jett or nothing else is going to come down the pipeline to save his life, this is it,” McSherry said.

The FDA wants more study data, more information and more proof. Austin and Jett would need to take Eteplirsen for six months at least to get it into their system to begin making the dystrophin protein Duchenne patients lack.

At 15, Austin says he is not afraid to die, which his family says could happen while waiting on the FDA to make a move.

Duchenne muscular dystrophy (DMD) is a vicious form of muscular dystrophy that occurs mostly in boys. It is caused by an alteration in a gene, called the DMD gene that can be inherited, but it also can occur in people who do not have a known family history of the condition. The condition causes progressive loss of muscles function and weakness that begins in the lower limbs. Boys with DMD do not make the dystrophin protein in their muscles. It affects approximately one in 3500 boys worldwide. (Source: www.genome.gov)

SYMPTOMS: When a child has DMD, symptoms normally appear before six years old and may appear as early as infancy. The first noticeable symptom is in motor milestones. For example, sitting and standing independently will be more of a challenge. The average age of walking in boys with DMD is 18 months. DMD attacks the leg and pelvic muscles, resulting in a waddle and difficulty climbing stairs. Calf muscles usually enlarge and the muscle tissue eventually is replaced with connective tissue and fat. When the leg muscles contract, the muscles become unusable because the muscle fibers are shortened and fibrosis occurs in connective tissue. Symptoms are usually prevalent in boys ages one to six. There is a steady decline in muscle strength from age’s six to eleven. By age ten, patients may need braces to walk and in a wheelchair by 12. Few individuals with DMD live beyond 30. Cardiomyopathy and breathing complications are common causes of death for DMD patients. (Source: www.genome.gov)

CHRISTINE MCSHERRY: “About two years ago it became very apparent that a drug that was in trial, a trial of twelve boys who had Duchenne muscular dystrophy, those boys all seemed to stabilize or get better. At their 48 week mark during the trial the muscle biopsy that was taken from them was revealed and actually showing the protein that the boys were lacking. So, the reason for Duchenne muscular dystrophy or the underlying causes of Duchenne muscular dystrophy is a lack of dystrophin in the body. They have none. And the whole idea of exon skipping this technology goes in and it takes out a certain exon and allows a read through of the chromosome and then allows the body to make a truncated dystrophin, that’s what the aim is for the drug, the mechanism of action is for that drug of this technology. Theoretically you would hope that it would turn the child who is taking the drug into a milder form of muscular dystrophy called Becker. Becker patients have a small amount of dystrophin, or a large amount of dystrophin, they just have some dystrophin in their muscles versus none like a child with Duchenne.”

The mothers along with other parents were responsible for bringing 7 world renowned Duchenne experts to the FDA, where the experts discussed the life-changing results and the lack of side effects with the agency, because the experts agree that this drug and technology could hold the first treatment ever in Duchene.

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